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https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#1
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27974188/treatment-of-growth-hormone-deficiency-in-children-adolescents-and-at-the-transitional-age
#2
REVIEW
Erick Richmond, Alan D Rogol
Recombinant human growth hormone (rhGH) has been available since 1985. Before 1985 growth hormone (GH) was extracted from cadaveric pituitary glands, but this was stopped in most countries that year, following the recognition that it could transmit Creutzfeldt-Jacob disease. The primary goal of rhGH treatment in GHD patients is to normalize height during childhood and adolescence and attain an adult height within the normal range and within the target height range (genetic potential). Genome-wide association studies have been used increasingly to study the genetic influence on height...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27941173/long-term-response-to-growth-hormone-therapy-in-a-patient-with-short-stature-caused-by-a-novel-heterozygous-mutation-in-npr2
#3
Gabriela A Vasques, Alfonso Hisado-Oliva, Mariana F A Funari, Antonio M Lerario, Elisangela P S Quedas, Paulo Solberg, Karen E Heath, Alexander A L Jorge
BACKGROUND: Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (NPR2) are responsible for short stature in patients without a distinct phenotype. Some of these patients have been treated with recombinant human growth hormone (rhGH) therapy with a variable response. CASE PRESENTATION: The proband was a healthy boy who presented at the age of 5.1 years with familial short stature (height SDS of -3.1). He had a prominent forehead, a depressed nasal bridge, centripetal fat distribution and a high-pitched voice resembling that of children with GH deficiency...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27926952/growth-hormone-treatment-increases-plasma-irisin-concentration-in-patients-with-turner-syndrome
#4
B Wikiera, K Zawadzka, Ł Łaczmański, N Słoka, M Bolanowski, A Basiak, A Noczyńska, J Daroszewski
Irisin (Ir) deficiency may be a contributing factor in metabolic disease. This study aimed to investigate the effect of supraphysiological doses of recombinant human growth hormone (rhGH) on Ir plasma concentration in relation to metabolic disorders, including obesity and other components of metabolic syndrome. We studied 36 girls with Turner syndrome (mean age 8.2 years) treated with rhGH (0.05 mg/kg/day). Anthropometric data and fasting blood levels [e. g., Ir, insulin, glucose, glycated hemoglobin (HbA1c), IGF-1, IGFBP-3, cholesterol, insulin resistance (HOMA-IR), and β-cell function (HOMA-β)] were analyzed prior to and following rhGH therapy [mean (SD) follow-up of 1...
December 7, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27914605/simultaneous-detection-of-recombinant-growth-hormones-in-equine-plasma-by-liquid-chromatography-high-resolution-tandem-mass-spectrometry-for-doping-control
#5
Kin-Sing Wong, George H M Chan, Emmie N M Ho, Terence S M Wan
Growth hormone (GH), or somatotropin, is a protein that may enhance physical performance and facilitate growth and wound healing. For this reason, growth hormones and their recombinant analogues are prohibited in human sports by the World Anti-Doping Agency (WADA) and in horseracing under Article 6 of the International Agreement on Breeding, Racing and Wagering published by the International Federation of Horse Racing Authorities (IFHA). Identifying the illicit use of GHs in both human athletes and racehorses is challenging, especially when differentiating between endogenous and exogenous GHs, and between analogues of GH from different species...
December 23, 2016: Journal of Chromatography. A
https://www.readbyqxmd.com/read/27803832/a-child-with-local-lipohypertrophy-following-recombinant-human-growth-hormone-administration
#6
Ilan J N Koppen, Roel Bakx, Chris C de Kruiff, A S Paul van Trotsenburg
Local lipohypertrophy due to recombinant human growth hormone (rhGH) administration is a rare phenomenon. Here, we report a case of an 11-year-old girl who presented with a paraumbilical swelling, approximately one year after the start of rhGH treatment for short stature due to the presumed diagnosis of partial growth hormone insensitivity. Ultrasound imaging revealed an asymmetric distribution of subcutaneous fat tissue at the rhGH administration site, indicating local lipohypertrophy. After sparing her routine injection site and alternating other sites, the swelling disappeared within 6 months...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27746341/growth-hormone-is-protective-against-acute-methadone-induced-toxicity-by-modulating-the-nmda-receptor-complex
#7
Erik Nylander, Alfhild Grönbladh, Sofia Zelleroth, Shanti Diwakarla, Fred Nyberg, Mathias Hallberg
Human growth hormone (GH) displays promising protective effects in the central nervous system after damage caused by various insults. Current evidence suggests that these effects may involve N-methyl-d-aspartate (NMDA) receptor function, a receptor that also is believed to play a role in opioid-induced neurotoxicity. The aims of the present study were to examine the acute toxic effects of methadone, an opioid receptor agonist and NMDA receptor antagonist, as well as to evaluate the protective properties of recombinant human GH (rhGH) on methadone-induced toxicity...
December 17, 2016: Neuroscience
https://www.readbyqxmd.com/read/27717280/evaluation-of-fibronectin-1-in-one-dried-blood-spot-and-in-urine-after-rhgh-treatment
#8
P Ferro, R Ventura, C Pérez-Mañá, M Farré, J Segura
Since the appearance of recombinant human growth hormone (rhGH) in the 1980s, its expansion and acquisition through the black market has increased, so the detection of its abuse continues to be a challenge. New biomarkers that are more reliable and sensitive, allowing a larger detection window, are still needed. In this line, Fibronectin 1 (FN1) has been proposed as a potential genetic and protein biomarker of rhGH abuse in peripheral blood lymphocytes, serum, and plasma. However, logistic problems associated with current blood collection in sports drug testing point towards potential new alternative matrices that could be good candidates to be evaluated...
October 7, 2016: Drug Testing and Analysis
https://www.readbyqxmd.com/read/27659551/-somatotropic-axis-and-molecular-markers-of-mineral-metabolism-in-children-undergoing-chronic-peritoneal-dialysis
#9
María Luisa Ceballos Osorio, Francisco Cano Schuffeneger
: Growth failure is one of the most relevant complications in children with chronic kidney disease (CKD). Among others, growth hormone (GH) resistance and bone mineral disorders have been identified as the most important causes of growth retardation. OBJECTIVES: 1. To characterize bone mineral metabolism and growth hormone bio-markers in CKD children treated with chronic peritoneal dialysis (PD). 2. To evaluate height change with rhGH treatment. PATIENTS AND METHOD: A longitudinal 12-month follow-up in prepuberal PD children...
September 19, 2016: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/27627580/functional-changes-after-recombinant-human-growth-hormone-replacement-in-patients-with-chronic-traumatic-brain-injury-and-abnormal-growth-hormone-secretion
#10
Kurt A Mossberg, William J Durham, Dennis J Zgaljardic, Charles R Gilkison, Christopher P Danesi, Melinda Sheffield-Moore, Brent E Masel, Randall J Urban
We explored the effects of recombinant human growth hormone (rhGH) replacement on physical and cognitive functioning in subjects with a moderate-to-severe traumatic brain injury (TBI) with abnormal growth hormone (GH) secretion. Fifteen individuals who sustained a TBI at least 12 months prior to study enrollment were identified as having abnormal GH secretion by glucagon stimulation testing (maximum GH response less than 8 ng/mL). Peak cardiorespiratory capacity, body composition, and muscle force testing were assessed at baseline and one year after rhGH replacement...
October 13, 2016: Journal of Neurotrauma
https://www.readbyqxmd.com/read/27507700/determination-of-recent-growth-hormone-abuse-using-a-single-dried-blood-spot
#11
Gemma Reverter-Branchat, Jaume Bosch, Jessica Vall, Magí Farré, Esther Papaseit, Simona Pichini, Jordi Segura
BACKGROUND: Although it is being increasingly applied, blood collection for drug testing in sport presents some logistic issues that complicate full applicability on a large scale. The use of dried blood spots (DBS) could benefit compliant blood testing considerably owing to its simplicity, minimal invasiveness, analyte stability, and reduced costs. The aim of this study was to evaluate the applicability of DBS to the methodology approved by the World Anti-Doping Agency (WADA) for detection of doping by recombinant human growth hormone (rhGH) in serum...
October 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27469300/endogenous-signal-peptides-in-recombinant-protein-production-by-pichia-pastoris-from-in-silico-analysis-to-fermentation
#12
Aslan Massahi, Pınar Çalık
For extracellular recombinant protein production, the efficiency of five endogenous secretion signal peptides (SPs) of Pichia pastoris, SP13 (MLSTILNIFILLLFIQASLQ), SP23 (MKILSALLLLFTLAFA), SP24 (MKVSTTKFLAVFLLVRLVCA), SP26 (MWSLFISGLLIFYPLVLG), SP34 (MRPVLSLLLLLASSVLA), selected based on their D-score which quantifies the signal peptide-ness of a given sequence segment, was investigated using recombinant human growth hormone (rhGH) as the model protein. The expression was conducted under glyceraldehyde-3-phosphate dehydrogenase promoter (PGAP)...
November 7, 2016: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/27459425/high-purity-recombinant-human-growth-hormone-rhgh-expression-in-escherichia-coli-under-phoa-promoter
#13
Hao Song, Jingxin Jiang, Xuedong Wang, Jianguo Zhang
Recombinant human growth hormone (rhGH) is an important protein for human growth and is in high demand in clinics. Hence, it is necessary to develop an efficient fermentation process to produce highly pure rhGH. In this study, rhGH was expressed in Escherichia coli under alkaline phosphatase (phoA) promoter. The cultivation conditions for high expression level and purity of rhGH were investigated. The best initial phosphate concentration for rhGH expression, out of the 4 levels of initial phosphate concentration tests performed, was 12...
July 26, 2016: Bioengineered
https://www.readbyqxmd.com/read/27459301/a-rare-variant-of-turner-syndrome-in-four-sequential-generations-effect-of-the-interplay-of-growth-hormone-treatment-and-estrogens-on-body-proportion
#14
Judith Stoklasova, Jana Kaprova, Marie Trkova, Vera Nedomova, Dana Zemkova, Jana Matyskova, Ondrej Soucek, Zdenek Sumnik, Jan Lebl
BACKGROUND: Terminal Xp deletion leads to SHOX haploinsufficiency, and when it exceeds Xp22.33 it causes a variant of Turner syndrome (TS) in which gonadal function is preserved and short stature constitutes the major clinical feature. CASE REPORT: We present a family with vertical transmission of TS that affected six women in four sequential generations. The karyotype was defined as a combination of terminal Xp deletion and terminal Xq duplication: 46,X,rec(X)inv(p21...
2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27457999/targeting-gh-1-splicing-as-a-novel-pharmacological-strategy-for-growth-hormone-deficiency-type-ii
#15
REVIEW
Maria Consolata Miletta, Christa E Flück, Primus-E Mullis
Isolated growth hormone deficiency type II (IGHD II) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and short stature. It is mainly caused by autosomal dominant-negative mutations within the growth hormone gene (GH-1) which results in missplicing at the mRNA level and the subsequent loss of exon 3, producing the 17.5-kDa GH isoform: a mutant and inactive GH protein that reduces the stability and the secretion of the 22-kDa GH isoform, the main biologically active GH form...
January 15, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/27437620/growth-hormone-receptor-isoforms-and-fracture-risk-in-adult-onset-growth-hormone-deficient-patients
#16
M Mormando, S Chiloiro, A Bianchi, A Giampietro, F Angelini, L Tartaglione, L Nasto, D Milardi, A M Formenti, A Giustina, L De Marinis
INTRODUCTION: Growth hormone deficiency is considered the most important factor determining skeletal fragility in hypopituitary patients. Osteoblasts and chondrocytes express growth hormone (GH) receptor. Two GH receptor isoforms (GHRi) have been identified: they differ for the presence/absence of a protein fragment encoded by exon 3 of GHR gene. Consequently, three genotypes were identified: carriers of both the full-length proteins (flfl-GHR), carriers of one full-length protein and one deleted protein (fld3-GHR) and carriers of both deleted proteins (d3d3-GHR)...
November 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27417288/low-dose-growth-hormone-therapy-reduces-inflammation-in-hiv-infected-patients-a-randomized-placebo-controlled-study
#17
Johanne Bjerre Lindboe, Anne Langkilde, Jesper Eugen-Olsen, Birgitte R Hansen, Thomas H Haupt, Janne Petersen, Ove Andersen
BACKGROUND: Combination antiretroviral therapy (cART) has drastically increased the life expectancy of HIV-infected patients. However, HIV-infected patients exhibit increased inflammation and 33-58% exhibit a characteristic fat re-distribution termed HIV-associated lipodystrophy syndrome (HALS). Recombinant human growth hormone (rhGH) has been tested as treatment of HALS. Low-dose rhGH therapy improves thymopoiesis and fat distribution in HIV-infected patients and appears to be well tolerated...
November 2016: Infectious Diseases
https://www.readbyqxmd.com/read/27384621/-ghrd3-polymorphism-of-growth-hormone-receptor-gen-in-peruvian-children-with-idiopathic-short-stature
#18
Carlos Del Águila, César Ortiz, Mirtha Yarlequé, Candy Bellido, Miguel Zaldivar, Juan Falen
OBJECTIVES: To describe the standardization of molecular detection and frequency of a growth hormone receptor gene deleted for exon three (GHRd3) polymorphism in a population of Peruvian children with idiopathic short stature. MATERIALS AND METHODS: Peripheral blood samples were used from patients (N=64) who were diagnosed with idiopathic short stature and were treated at the endocrinology unit of the National Institute of Child Health in Peru The amplification of exon 3 was carried out using G1, G2, and G3 primers by optimizing PCR conditions, such as annealing temperature and magnesium concentration...
March 2016: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/27382409/recombinant-human-growth-hormone-and-insulin-like-growth-factor-1-do-not-affect-mitochondrial-derived-highly-reactive-oxygen-species-production-in-peripheral-blood-mononuclear-cells-under-conditions-of-substrate-saturation-in-vitro
#19
James Keane, Lotti Tajouri, Bon Gray
BACKGROUND: The purpose of this study was to investigate the mitochondrial effects exerted by physiological and supra-physiological concentrations of recombinant human growth hormone (rhGH) and recombinant insulin-like growth factor-1 (rIGF-1) under conditions of substrate saturation in peripheral blood mononuclear cells (PBMCs). METHODS: PBMCs from healthy male subjects were treated with either rhGH, at concentrations of 0.5, 5 and 50 μg/L, or rIGF-1 at concentrations of 100, 300 and 500 μg/L for 4 h...
2016: Nutrition & Metabolism
https://www.readbyqxmd.com/read/27355624/height-outcome-of-recombinant-human-growth-hormone-treatment-in-achondroplasia-children-a-meta-analysis
#20
Mario Miccoli, Silvano Bertelloni, Francesco Massart
BACKGROUND/AIMS: Although recombinant human growth hormone (rhGH) is not approved to treat short stature of achondroplasia (ACH), some studies suggested growth improvement during short-term rhGH treatment. METHODS: A meta-analysis of rhGH therapy efficacy in ACH children was performed. RESULTS: From 12 English-language studies, 558 (54.0% males) rhGH-treated ACH children were enrolled. Administration of rhGH (median dosage 0.21 mg/kg/ week; range 0...
2016: Hormone Research in Pædiatrics
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